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https://www.readbyqxmd.com/read/28449356/fetal-head-circumference-and-subpubic-angle-are-independent-risk-factors-for-unplanned-cesarean-and-operative-delivery
#1
Giuseppe Rizzo, Elisa Aiello, Costanza Bosi, Francesco D' Antonio, Domenico Arduini
INTRODUCTION: To ascertain whether combined ultrasound assessment of fetal head circumference (HC) and maternal subpubic angle (SPA) prior to the onset of labour may predict the likelihood of an unplanned operative delivery (UOD) in nulliparous women at term. MATERIAL AND METHODS: Prospective cohort study of singleton pregnancies in cephalic presentation. Pregnancies experiencing UOD secondary to fetal distress were excluded. HC was assessed transabdominally while SPA values were obtained from a reconstructed coronal plane on three-dimensional(3D) ultrasound performed trans-labially at 36-38 weeks of gestation...
April 27, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28449214/a-rising-incidence-and-poorer-male-outcomes-characterise-early-onset-paediatric-inflammatory-bowel-disease
#2
A Coughlan, R Wylde, L Lafferty, S Quinn, A Broderick, B Bourke, S Hussey
BACKGROUND: The incidence of paediatric inflammatory bowel disease diagnosed before age 10 years is reportedly increasing, but national data are limited. AIM: To characterise the epidemiology, phenotype and clinical outcomes of children diagnosed with inflammatory bowel disease before age 10 years, and compare with data from children diagnosed aged 10-16 years. METHODS: A review of all Irish cases of early onset inflammatory bowel disease (diagnosis <10 years, EO-IBD) presenting between January 2000 and December 2014 was undertaken and compared to a cohort of later onset paediatric inflammatory bowel disease patients (diagnosis between 10 and 16 years, LO-IBD)...
April 27, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28449029/a-genome-wide-association-study-identifies-nucleotide-variants-at-siglec5-and-defa1a3-as-risk-loci-for-periodontitis
#3
Matthias Munz, Christina Willenborg, Gesa M Richter, Yvonne Jockel-Schneider, Christian Graetz, Ingmar Staufenbiel, Jürgen Wellmann, Klaus Berger, Bastian Krone, Per Hoffmann, Nathalie van der Velde, André G Uitterlinden, Lisette C P G M de Groot, Amr Sawalha, Haner Direskeneli, Güher Saruhan-Direskeneli, Esra Guzeldemir-Akcakanat, Gencay Keceli, Matthias Laudes, Barbara Noack, Alexander Teumer, Birte Holtfreter, Thomas Kocher, Peter Eickholz, Jörg Meyle, Christof Doerfer, Corinna Bruckmann, Wolfgang Lieb, Andre Franke, Stefan Schreiber, Rahime M Nohutcu, Jeanette Erdmann, Bruno G Loos, Soeren Jepsen, Henrik Dommisch, Arne S Schaefer
Periodontitis is one of the most common inflammatory diseases, with a prevalence of 11% worldwide for the severe forms and an estimated heritability of 50%. The disease is characterized by destruction of the alveolar bone due to an aberrant host inflammatory response to a dysbiotic oral microbiome. Previous genome-wide association studies (GWAS) have reported several suggestive susceptibility loci. Here, we conducted a GWAS using a German and Dutch case-control sample of aggressive periodontitis (AgP, 896 cases, 7,104 controls), a rare but highly severe and early-onset form of periodontitis, validated the associations in a German sample of severe forms of the more moderate phenotype chronic periodontitis (CP) (993 cases, 1,419 controls)...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#4
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28448676/-i-m-still-here-personhood-and-the-early-onset-dementia-experience
#5
Mariko L Sakamoto, Sharon L Moore, Steven T Johnson
Early-onset dementia (EOD) occurs before age 65. The current study examined the lived experience from the point of view of four adults younger than 65 with dementia, particularly how they perceive their personhood. Using interpretative phenomenological analysis as the research approach, findings revealed that the EOD experience can be incorporated into six themes: (a) A Personal Journey, (b) Navigating the System, (c) The Stigma of Dementia, (d) Connecting to the World, (e) A Story Worth Telling, and (f) I'm Still Here...
May 1, 2017: Journal of Gerontological Nursing
https://www.readbyqxmd.com/read/28448308/the-effects-of-prenatal-maternal-stress-on-early-temperament-the-2011-queensland-flood-study
#6
Gabrielle Simcock, Guillaume Elgbeili, David P Laplante, Sue Kildea, Vanessa Cobham, Helen Stapleton, Marie-Paule Austin, Alain Brunet, Suzanne King
OBJECTIVE: This study examined the effects of disaster-related prenatal maternal stress on infant temperament and whether the sex of the infant or the timing of the stressor in pregnancy would moderate the effects. METHODS: Mothers' objective experiences of a sudden-onset flood in Queensland, Australia, their subjective emotional reactions, and cognitive appraisal of the event were assessed. At 6 months postpartum, 121 mothers reported their infant's temperament on the 5 dimensions of the Short Temperament Scale for Infants...
April 26, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28448179/comparison-of-arterial-stiffness-in-preeclamptic-and-normotensive-pregnant-women-from-a-semi-rural-region-of-south-africa
#7
A Namugowa, J Iputo, J Wandabwa, A Meeme, G A B Buga
BACKGROUND: Preeclampsia is associated with arterial stiffness and endothelial dysfunction. The pathophysiology of arterial tone in preeclampsia has not been well described in rural African population, where the incidence is higher. OBJECTIVE: The aim of the study was to compare arterial tone of preeclamptic with pregnant normotensive women assessed with noninvasive techniques, using applanation tonometry with SphygmoCor. METHOD: This was a cross-sectional study...
2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28447722/novel-compound-heterozygous-plec-mutations-lead-to-early%C3%A2-onset-limb%C3%A2-girdle-muscular-dystrophy-2q
#8
Jingzi Zhong, Gang Chen, Yiwu Dang, Haixia Liao, Jiapeng Zhang, Dan Lan
Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC1) gene at chromosome 8q24.3. In the present study, targeted sequencing using a muscle disease gene panel was performed in a patient with muscular dystrophy. The family members were confirmed by Sanger sequencing. The PolyPhen‑2, SIFT and MutationTaster tools were used to predicted the possible effect of the mutations. Immunocytochemistry was used to visualize and localize the plectin protein within the gastrocnemius. Novel compound heterozygous mutations c...
March 9, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28447626/familial-hyperaldosteronism-type-iii
#9
REVIEW
S Monticone, M Tetti, J Burrello, F Buffolo, R De Giovanni, F Veglio, T A Williams, P Mulatero
Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. FH-III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4 (also called GIRK4). These mutations alter the selectivity filter of the channel and lead to abnormal ion currents with loss of potassium selectivity, sodium influx and consequent increased intracellular calcium that causes excessive aldosterone biosynthesis...
April 27, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28447221/deleterious-abca7-mutations-and-transcript-rescue-mechanisms-in-early-onset-alzheimer-s-disease
#10
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, Jan Verheijen, Wouter De Coster, Jasper Van Dongen, Lubina Dillen, Yalda Baradaran-Heravi, Bavo Heeman, Raquel Sanchez-Valle, Albert Lladó, Benedetta Nacmias, Sandro Sorbi, Ellen Gelpi, Oriol Grau-Rivera, Estrella Gómez-Tortosa, Pau Pastor, Sara Ortega-Cubero, Maria A Pastor, Caroline Graff, Håkan Thonberg, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Maria Rosário Almeida, Isabel Santana, Janine Diehl-Schmid, Panagiotis Alexopoulos, Jordi Clarimon, Alberto Lleó, Juan Fortea, Magda Tsolaki, Maria Koutroumani, Radoslav Matěj, Zdenek Rohan, Peter De Deyn, Sebastiaan Engelborghs, Patrick Cras, Christine Van Broeckhoven, Kristel Sleegers
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)-control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing...
April 27, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28446898/delayed-hospital-presentation-and-neuroimaging-in-non-surgical-spinal-cord-infarction
#11
Slaven Pikija, Johannes Sebastian Mutzenbach, Alexander B Kunz, Raffaele Nardone, Stefan Leis, Ildiko Deak, Mark R McCoy, Eugen Trinka, Johann Sellner
BACKGROUND: Lack of timely recognition and neuroimaging may be a barrier to reperfusion efforts in acute spinal cord infarction. METHODS: We performed a retrospective study of patients diagnosed with acute non-surgical spinal cord infarction at our tertiary academic center from 2001 to 2015. We studied parameters associated with time from symptom onset to initial hospital presentation and magnetic resonance imaging (MRI) of the spinal cord. RESULTS: We identified 39 patients among whom anterior spinal artery syndrome was the most frequent presentation (87...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28446513/frequent-hypomorphic-alleles-account-for-a-significant-fraction-of-abca4-disease-and-distinguish-it-from-age-related-macular-degeneration
#12
Jana Zernant, Winston Lee, Frederick T Collison, Gerald A Fishman, Yuri V Sergeev, Kaspar Schuerch, Janet R Sparrow, Stephen H Tsang, Rando Allikmets
BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variation, even complete sequencing of the entire open reading frame and splice sites of ABCA4 identifies biallelic mutations in only 60%-70% of cases; 20%-25% remain with one mutation and no mutations are found in 10%-15% of cases with clinically confirmed ABCA4 disease...
April 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28445943/a-molecular-inversion-probe-based-next-generation-sequencing-panel-to-detect-germline-mutations-in-chinese-early-onset-colorectal-cancer-patients
#13
Junxiao Zhang, Xiaoyan Wang, Richarda M de Voer, Jayne Y Hehir-Kwa, Eveline J Kamping, Robbert D A Weren, Marcel Nelen, Alexander Hoischen, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge, Xiangling Yang, Zihuan Yang, Xinjuan Fan, Lei Wang, Huanliang Liu, Jianping Wang, Roland P Kuiper, Ad Geurts van Kessel
The currently known Mendelian colorectal cancer (CRC) predisposition syndromes account for ~5-10% of all CRC cases, and are caused by inherited germline mutations in single CRC predisposing genes. Using molecular inversion probes (MIPs), we designed a targeted next-generation sequencing panel to identify mutations in seven CRC predisposing genes: APC, MLH1, MSH2, MSH6, PMS2, MUTYH and NTHL1. From a consecutive series of 2,371 Chinese CRC patients, 140 familial and non-familial cases were selected that were diagnosed with CRC at or below the age of 35 years...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445633/advanced-glycation-end-products-in-recent-onset-psychosis-indicate-early-onset-of-cardiovascular-risk
#14
Julia M Hagen, Arjen L Sutterland, Maarten W Koeter, Rene Lutter, Dan Cohen, Lieuwe de Haan
OBJECTIVE: Profoundly increased mortality rates in schizophrenia, largely caused by a higher risk and earlier onset of cardiovascular disease, remain a major challenge. During the human lifespan, advanced glycation end products (AGEs) accumulate, and their concentration is strongly linked to cardiovascular mortality. AGE accumulation can be accelerated by several pathways, including oxidative stress. METHODS: From March 2015 through January 2016, a case-control study including 111 patients with a recent-onset psychosis, 135 controls from a validation cohort, and 286 healthy controls was performed...
April 25, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28445498/metabolic-profiles-by-1h-magnetic-resonance-spectroscopy-in-natalizumab-associated-post-pml-lesions-of-multiple-sclerosis-patients-who-survived-progressive-multifocal-leukoencephalopathy-pml
#15
Ruth Schneider, Barbara Bellenberg, Robert Hoepner, Eva-Maria Kolb, Gisa Ellrichmann, Aiden Haghikia, Ralf Gold, Carsten Lukas
PURPOSE: Early diagnosis and treatment of multiple sclerosis-related progressive multifocal leukoencephalopathy (PML) significantly improve clinical outcomes. However, there is a lack of information regarding the restart of immunomodulatory therapy in the post-PML setting, when multiple sclerosis activity reappears. We aimed at the examination of metabolic differences using 1H-magnetic resonance spectroscopy (1H-MRS) in multiple sclerosis patients at various post-PML stages and at the exploration of differences according to their disease and JC virus (JCV) status...
2017: PloS One
https://www.readbyqxmd.com/read/28444637/phase-dependent-astroglial-alterations-in-li-pilocarpine-induced-status-epilepticus-in-young-rats
#16
Adriana Fernanda K Vizuete, Matheus Mittmann Hennemann, Carlos Alberto Gonçalves, Diogo Losch de Oliveira
Epilepsy prevalence is high in infancy and in the elderly population. Lithium-pilocarpine is widely used to induce experimental animal models of epilepsy, leading to similar neurochemical and morphological alterations to those observed in temporal lobe epilepsy. As astrocytes have been implicated in epileptic disorders, we hypothesized that specific astroglial changes accompany and contribute to epileptogenesis. Herein, we evaluated time-dependent astroglial alterations in the hippocampus of young (27-day-old) rats at 1, 14 and 56 days after Li-pilocarpine-induced status epilepticus (SE), corresponding to different phases in this model of epilepsy...
April 25, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28444429/hypopharyngeal-and-upper-esophageal-ulceration-after-cervical-spine-radiotherapy-concurrent-with-crizotinib
#17
Marcus H Zimmermann, Gabriele Beckmann, Pius Jung, Michael Flentje
Herein, the authors describe the case of a 31-year-old female patient with primary metastatic adenocarcinoma of the lung referred for radiation therapy of newly diagnosed intramedullary spinal cord metastasis at C4/5 and an adjacent osteolytic lesion. Radiotherapy of the cervical spine level C3 to C5, including the whole vertebra, was performed with 30 Gy in 10 fractions. The patient's systemic therapy with crizotinib 250 mg twice daily was continued. After 8 fractions of radiation the patient developed increasing dysphagia...
April 25, 2017: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
https://www.readbyqxmd.com/read/28444411/-acute-liver-failure
#18
A Koch, C Trautwein, F Tacke
Acute liver failure (ALF) is a rare, but life-threatening disease that is characterized by the acute onset of jaundice, coagulopathy, and hepatic encephalopathy (HE) in patients without pre-existing liver disease. Main causes in Germany are drug toxicity, acetaminophen overdose, and viral hepatitis (A, B, E). For the initial assessment of patients with ALF and the diagnostic algorithm, the early detection of HE, exclusion of liver cirrhosis, immediate diagnosis of the underlying etiology, and evaluation for the necessity of liver transplantation (LT) are critical...
April 25, 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28444360/role-of-early-onset-neutropenia-in-development-of-candidemia-in-premature-infants
#19
Nermin Ramy, Mohamed Hashim, Heba Abou Hussein, Happy Sawires, Maha Gaafar, Ayat El Maghraby
Background: The aim of the study was to assess the effect of early-onset neutropenia (EON) on the development of candidemia in premature infants and evaluate other risk factors. Materials and Methods: This prospective study was carried out in a neonatal intensive care unit of Cairo University Hospital. Fifty neutropenic premature infants were matched to 50 non-neutropenics. Subjects were then regrouped into candidemics and non-candidemics to study other risk factors such as central venous catheters, mechanical ventilation, parenteral nutrition, drugs as corticosteroids and others...
April 24, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/28444234/inferring-allele-frequency-trajectories-from-ancient-dna-indicates-that-selection-on-a-chicken-gene-coincided-with-changes-in-medieval-husbandry-practices
#20
Liisa Loog, Mark G Thomas, Ross Barnett, Richard Allen, Naomi Sykes, Ptolemaios D Paxinos, Ophelie Lebrasseur, Keith Dobney, Joris Peters, Andrea Manica, Greger Larson, Anders Eriksson
Ancient DNA provides an opportunity to infer the drivers of natural selection by linking allele frequency changes to temporal shifts in environment or cultural practices. However, analyses have often been hampered by uneven sampling and uncertainties in sample dating, as well as being confounded by demographic processes. Here we present a Bayesian statistical framework for quantifying the timing and strength of selection using ancient DNA that explicitly addresses these challenges. We applied this method to time series data for two loci: TSHR and BCDO2, both argued to have undergone strong and recent selection in domestic chickens...
April 21, 2017: Molecular Biology and Evolution
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